Variant report

Variant	rs62451217
Chromosome Location	chr7:40718870-40718871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40717841..40720122-chr7:40725569..40728338,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10250246	0.86[ASN][1000 genomes]
rs10486813	0.86[ASN][1000 genomes]
rs10951638	0.84[ASN][1000 genomes]
rs1146040	0.81[ASN][1000 genomes]
rs1203725	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1203726	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1203727	0.81[ASN][1000 genomes]
rs1203728	0.82[ASN][1000 genomes]
rs1203730	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1203733	0.81[ASN][1000 genomes]
rs1203734	0.81[ASN][1000 genomes]
rs12701827	0.93[EUR][1000 genomes]
rs13235741	0.82[ASN][1000 genomes]
rs17171762	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17171763	0.86[ASN][1000 genomes]
rs17171764	0.86[ASN][1000 genomes]
rs1921750	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33997358	0.90[EUR][1000 genomes]
rs35428147	0.83[ASN][1000 genomes]
rs4050983	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57655172	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62451219	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6462987	0.86[ASN][1000 genomes]
rs67320459	0.93[EUR][1000 genomes]
rs6959899	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965055	0.86[ASN][1000 genomes]
rs6978898	0.83[ASN][1000 genomes]
rs73310278	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73310281	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7808606	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40713200-40720800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:40714200-40721800	Weak transcription	Osteobl	bone
3	chr7:40714200-40722200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:40715600-40723400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:40717800-40719200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:40717800-40723600	Weak transcription	Aorta	Aorta
7	chr7:40718800-40722000	Weak transcription	Ovary	ovary

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